A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6723799



Internal ID9788216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:143512506..143715782hg38UCSC Ensembl
OuterchrX:142600335..142798876hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg38203277
hg19198542
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740547
Supporting Variants
SamplesSSM045
Known GenesSLITRK4, SPANXN2, SPANXN3
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6723799
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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